Nephrotic syndrome and mitochondrial disorders: Questions

  • Julie Bernardor
  • Camille Faudeux
  • Anabelle Chaussenot
  • Corinne Antignac
  • Alice Goldenberg
  • Marie Claire Gubler
  • Nicole Wagner
  • Etienne BérardEmail author
Clinical Quiz

In 2005, we reported on three patients in whom we suspected a nephrotic syndrome (NS) of mitochondrial origin [1]. Patients 2 and 3 died soon after birth due to a cardiogenic shock. The first patient was quite different (for detailed report, see ref. [1]).

The main features were as follows: He was born hypotrophic (2140 g, 49 cm), after an uneventful pregnancy from healthy non-consanguineous parents. The placenta weighed 800 g. During the first days of life, he exhibited clinical and biological signs of a moderate congenital cortico-resistant NS. Renal biopsy at 1 month of age showed diffuse mesangial proliferation and focal tubular dilatation. Search for classical etiologies of congenital NS failed to find any infectious origin, signs of a syndromic NS, or maternal pathologies. Genetic testing, made with classical techniques in 2006 (SCCP, Pr C. Antignac - Paris) only demonstrated a NPHS1mutation in the heterozygous state, also found in the asymptomatic father and considered a...


Child Nephrotic syndrome Mitochondrial disorder Cardiomyopathy 


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Conflict of interest

The authors declare that there is no conflict of interest.


  1. 1.
    Goldenberg A, Ngoc LH, Thouret MC, Cormier-Daire V, Gagnadoux MF, Chrétien D, Lefrançois C, Geromel V, Rötig A, Rustin P, Munnich A, Paquis V, Antignac C, Gubler MC, Niaudet P, de Lonlay P, Bérard E (2005) Respiratory chain deficiency presenting as congenital nephrotic syndrome. Pediatr Nephrol 20:465–469CrossRefPubMedGoogle Scholar

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© IPNA 2019

Authors and Affiliations

  1. 1.Unité de néphrologie pédiatriqueCHU de Nice - Hôpital Archet 2Nice Cedex 3France
  2. 2.Service de génétique médicaleCHU de Nice - Hôpital Archet 2Nice Cedex 3France
  3. 3.Laboratoire des maladies rénales héréditaires 1 - INSERM UMR S1163Institut ImagineParisFrance
  4. 4.Department of Genetics, Reference center for Hereditary Kidney Diseases (MARHEA), Assistance Publique - Hôpitaux de ParisNecker HospitalParisFrance
  5. 5.Unité de génétique cliniqueCHU de RouenRouen CedexFrance
  6. 6.CNRS, INSERM, iBVUniversité Côte d’AzurNiceFrance

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